Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing

Genetics in Medicine

Volumn 1, Issue 6, 1999, Pages 248-253

  Messiaen, Ludwine M ^a   Callens, Tom ^a   Roux, Kyle J ^d   Mortier, Geert R ^a   De Paepe, Anne ^a   Abramowicz, Marc ^b   Pericak Vance, Margaret A ^c   Vance, Jeffery M ^c   Wallace, Margaret R ^d  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b ERASME HOSPITAL   (Belgium)

^c DUKE UNIVERSITY MEDICAL CENTER   (United States)

^d UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

Author keywords

Aberrant splicing; Hotspot; MIR; Mutation; Neurofibromatosis type 1; Polymorphism

Indexed keywords

COMPLEMENTARY DNA; NERVE PROTEIN; NEUROFIBROMIN;

ADOLESCENT; ADULT; AGED; ARTICLE; BIOLOGICAL MODEL; CHILD; EXON; FEMALE; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; GENETICS; HUMAN; MALE; METABOLISM; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PRESCHOOL CHILD; PROTEIN SYNTHESIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; EXONS; FEMALE; HUMANS; MALE; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; NEUROFIBROMIN 1; OPEN READING FRAMES; POLYMORPHISM, GENETIC; PROTEIN BIOSYNTHESIS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING; TRANSCRIPTION, GENETIC;

EID: 0033188212     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/00125817-199909000-00002     Document Type: Article

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